Canonical Allele Identifier: CA006325

Gene: APC

Linked Data

• ClinVar Variation Id: 83212
• ClinVar RCV Id: RCV000074203 ; RCV000573010 ; RCV001192945 ; RCV001854267
• dbSNP Id: rs75117039
• gnomAD v4: 5-112835119-A-G
• MyVariant Identifiers: chr5:g.112170816A>G (hg19) ; chr5:g.112835119A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112835119A>G , CM000667.2:g.112835119A>G	GRCh38
NC_000005.9:g.112170816A>G , CM000667.1:g.112170816A>G	GRCh37
NC_000005.8:g.112198715A>G	NCBI36
NG_008481.4:g.147599A>G , LRG_130:g.147599A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.1577A>G	ENSP00000484935.2:n.1577A>G
ENST00000504915.3:c.1966A>G	ENSP00000473355.2:p.Ile656Val
ENST00000505350.2:c.*1918A>G	ENSP00000481752.1:n.*1918A>G
ENST00000507379.6:c.1858A>G	ENSP00000423224.2:p.Ile620Val
ENST00000509732.6:c.1912A>G	ENSP00000426541.2:p.Ile638Val
ENST00000512211.7:c.1912A>G	ENSP00000423828.3:p.Ile638Val
ENST00000257430.9:c.1912A>G MANE Select	ENSP00000257430.4:p.Ile638Val
ENST00000257430.8:c.1912A>G	ENSP00000257430.4:p.Ile638Val
ENST00000502371.2:c.265A>G
ENST00000504915.2:c.601A>G	ENSP00000473355.1:p.Ile201Val
ENST00000507379.5:c.1858A>G	ENSP00000423224.1:p.Ile620Val
ENST00000508376.6:c.1912A>G	ENSP00000427089.2:p.Ile638Val
ENST00000508624.5:c.*1234A>G	ENSP00000424265.1:n.*1234A>G
ENST00000512211.6:c.1912A>G	ENSP00000423828.2:p.Ile638Val
ENST00000520401.1:c.230+6147A>G
NM_000038.5:c.1912A>G	NP_000029.2:p.Ile638Val
NM_001127510.2:c.1912A>G	NP_001120982.1:p.Ile638Val
NM_001127511.2:c.1858A>G	NP_001120983.2:p.Ile620Val
NM_001354895.1:c.1912A>G	NP_001341824.1:p.Ile638Val
NM_001354896.1:c.1966A>G	NP_001341825.1:p.Ile656Val
NM_001354897.1:c.1942A>G	NP_001341826.1:p.Ile648Val
NM_001354898.1:c.1837A>G	NP_001341827.1:p.Ile613Val
NM_001354899.1:c.1828A>G	NP_001341828.1:p.Ile610Val
NM_001354900.1:c.1789A>G	NP_001341829.1:p.Ile597Val
NM_001354901.1:c.1735A>G	NP_001341830.1:p.Ile579Val
NM_001354902.1:c.1639A>G	NP_001341831.1:p.Ile547Val
NM_001354903.1:c.1609A>G	NP_001341832.1:p.Ile537Val
NM_001354904.1:c.1534A>G	NP_001341833.1:p.Ile512Val
NM_001354905.1:c.1432A>G	NP_001341834.1:p.Ile478Val
NM_001354906.1:c.1063A>G	NP_001341835.1:p.Ile355Val
NM_000038.6:c.1912A>G MANE Select	NP_000029.2:p.Ile638Val
NM_001127510.3:c.1912A>G	NP_001120982.1:p.Ile638Val
NM_001127511.3:c.1858A>G	NP_001120983.2:p.Ile620Val
NM_001354895.2:c.1912A>G	NP_001341824.1:p.Ile638Val
NM_001354896.2:c.1966A>G	NP_001341825.1:p.Ile656Val
NM_001354897.2:c.1942A>G	NP_001341826.1:p.Ile648Val
NM_001354898.2:c.1837A>G	NP_001341827.1:p.Ile613Val
NM_001354899.2:c.1828A>G	NP_001341828.1:p.Ile610Val
NM_001354900.2:c.1789A>G	NP_001341829.1:p.Ile597Val
NM_001354901.2:c.1735A>G	NP_001341830.1:p.Ile579Val
NM_001354902.2:c.1639A>G	NP_001341831.1:p.Ile547Val
NM_001354903.2:c.1609A>G	NP_001341832.1:p.Ile537Val
NM_001354904.2:c.1534A>G	NP_001341833.1:p.Ile512Val
NM_001354905.2:c.1432A>G	NP_001341834.1:p.Ile478Val
NM_001354906.2:c.1063A>G	NP_001341835.1:p.Ile355Val